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1186734006: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667503012 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
4667504018 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction en Synonym Active Initial character case insensitive SNOMED CT core
4667505017 A rare genetic neurological disorder with characteristics of progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Intellectual disability true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Lipid metabolism disorder true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Developmental hereditary disorder true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Pathological process Pathological developmental process true Inferred relationship Some 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Chronic metabolic disorder true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a Chronic mental disorder false Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Clinical course Progressive true Inferred relationship Some 4
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Interprets Intellectual ability true Inferred relationship Some 5
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Has interpretation Impaired true Inferred relationship Some 5
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Interprets Adaptation behaviour true Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Has interpretation Impaired true Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Interprets Movement true Inferred relationship Some 7
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Finding site Structure of left lower limb true Inferred relationship Some 8
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Has interpretation Absent true Inferred relationship Some 9
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Interprets Movement observable true Inferred relationship Some 9
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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